ClinVar Miner

List of variants reported as pathogenic for alpha thalassemia

Included ClinVar conditions (2):
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Total variants: 33
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HGVS dbSNP
GRCh37/hg19 16p13.3(chr16:216075-231021)
GRCh37/hg19 16p13.3(chr16:221962-228406)
HBA1, 1-BP DEL, 354C
NC_000016.9:g.(?_201208)_(232141_?)del
NC_000016.9:g.(?_219779)_(232141_?)del
NC_000016.9:g.223300_227103del
NG_000006.1:g.32867_38062del5196
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.*94A>G rs63751269
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys) rs111033601
NM_000517.6(HBA2):c.2T>C (p.Met1Thr) rs111033603
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) rs33987053
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro) rs41397847
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) rs281864819
NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs) rs1057519637
NM_000517.6(HBA2):c.95+2_95+6del rs41474145
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-79A>G rs34598529
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.316-106C>G rs34690599
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) rs33986703
NM_000518.5(HBB):c.92+1G>A rs33971440
NM_000518.5(HBB):c.92+5G>C rs33915217
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000518.5(HBB):c.93-21G>A rs35004220
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys) rs1060339
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa) rs33964317
NM_005332.2(HBZ):c.330_*22601del
Single allele

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